Canonical Allele Identifier: CA227073

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99192
• ClinVar RCV Id: RCV000085541 ; RCV001002836 ; RCV001073618
• dbSNP Id: rs61751262
• ExAC: 1:94510164 C / T
• gnomAD v2: 1-94510164-C-T
• gnomAD v4: 1-94044608-C-T
• MyVariant Identifiers: chr1:g.94510164C>T (hg19) ; chr1:g.94044608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94044608C>T , CM000663.2:g.94044608C>T	GRCh38
NC_000001.10:g.94510164C>T , CM000663.1:g.94510164C>T	GRCh37
NC_000001.9:g.94282752C>T	NCBI36
NG_009073.1:g.81542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3050+5G>A MANE Select	ENSP00000359245.3:n.3050+5G>A
ENST00000370225.3:c.3050+5G>A	ENSP00000359245.3:n.3050+5G>A
ENST00000536513.5:c.-64-4519G>A	ENSP00000439707.2:n.-64-4519G>A
NM_000350.2:c.3050+5G>A	NP_000341.2:n.3050+5G>A
NM_000350.3:c.3050+5G>A MANE Select	NP_000341.2:n.3050+5G>A